Functional relevance of naturally occurring mutations in adhesion G protein-coupled receptor ADGRD1 (GPR133).
Liane FischerCaroline WildeTorsten SchönebergInes LiebscherPublished in: BMC genomics (2016)
Our results show that a broad spectrum of functionally relevant ADGRD1 variants is present in the human population which may cause clinically relevant phenotypes, while being compatible with life when heterozygous.